CYP7A1 — 247 ClinVar variants
All ClinVar germline CYP7A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →
1 Pathogenic · 10 Conflicting · 9 Benign · 9 Benign/Likely benign · 52 Likely benign · 166 Uncertain significance
Full CYP7A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 137
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP7A1 p.Ala108Thr Uncertain significance Multiple submitters
- CYP7A1 p.Arg190Gly Uncertain significance Multiple submitters
- CYP7A1 p.Arg195Trp Uncertain significance Multiple submitters
- CYP7A1 p.Arg260Leu Uncertain significance Multiple submitters
- CYP7A1 p.Arg364Gln Uncertain significance Multiple submitters
-
CYP7A1 p.Arg364Trp
Uncertain significance
Multiple submitters
CYP7A1-related disorder
- CYP7A1 p.Arg483Trp Uncertain significance Multiple submitters
- CYP7A1 p.Asn264Ser Uncertain significance Multiple submitters
- CYP7A1 p.Asn36Lys Uncertain significance Multiple submitters
- CYP7A1 p.Glu313Lys Uncertain significance Multiple submitters
- CYP7A1 p.Glu453Lys Uncertain significance Multiple submitters
- CYP7A1 p.His373Gln Uncertain significance Multiple submitters
- CYP7A1 p.Ile187Val Uncertain significance Multiple submitters
- CYP7A1 p.Leu138Ser Uncertain significance Multiple submitters
- CYP7A1 p.Leu361Val Uncertain significance Multiple submitters
- CYP7A1 p.Leu405Trp Uncertain significance Multiple submitters
- CYP7A1 p.Leu462Val Uncertain significance Multiple submitters
- CYP7A1 p.Lys431Asn Uncertain significance Multiple submitters
- CYP7A1 p.Ser161Ala Uncertain significance Multiple submitters
- CYP7A1 p.Ser241Asn Uncertain significance Multiple submitters
- CYP7A1 p.Thr193Ile Uncertain significance Multiple submitters
- CYP7A1 p.Trp284Leu Uncertain significance Multiple submitters
- CYP7A1 p.Val315Met Uncertain significance Multiple submitters
- CYP7A1 p.Ala106Glu Uncertain significance Single submitter
- CYP7A1 p.Ala106Val Uncertain significance Single submitter
- CYP7A1 p.Ala164Thr Uncertain significance Single submitter
- CYP7A1 p.Ala221Val Uncertain significance Single submitter
- CYP7A1 p.Ala441Gly Uncertain significance Single submitter
- CYP7A1 p.Ala450Thr Uncertain significance Single submitter
- CYP7A1 p.Ala45Ser Uncertain significance Single submitter
- CYP7A1 p.Arg177Gln Uncertain significance Single submitter
- CYP7A1 p.Arg194Lys Uncertain significance Single submitter
- CYP7A1 p.Arg235Gly Uncertain significance Single submitter
- CYP7A1 p.Arg235Trp Uncertain significance Single submitter
- CYP7A1 p.Arg260Ser Uncertain significance Single submitter
- CYP7A1 p.Arg317Ser Uncertain significance Single submitter
- CYP7A1 p.Arg317Thr Uncertain significance Single submitter
- CYP7A1 p.Arg483Gln Uncertain significance Single submitter
- CYP7A1 p.Asn160Lys Uncertain significance Single submitter
- CYP7A1 p.Asp272Ala Uncertain significance Single submitter
- CYP7A1 p.Asp376Asn Uncertain significance Single submitter
- CYP7A1 p.Gln481Glu Uncertain significance Single submitter
- CYP7A1 p.Gln60Lys Uncertain significance Single submitter
- CYP7A1 p.Glu123Val Uncertain significance Single submitter
- CYP7A1 p.Glu143Lys Uncertain significance Single submitter
- CYP7A1 p.Glu245Lys Uncertain significance Single submitter
- CYP7A1 p.Glu255Lys Uncertain significance Single submitter
- CYP7A1 p.Glu306Asp Uncertain significance Single submitter
- CYP7A1 p.Glu54Gln Uncertain significance Single submitter
- CYP7A1 p.Gly30Ser Uncertain significance Single submitter
- CYP7A1 p.Gly330Ser Uncertain significance Single submitter
- CYP7A1 p.Gly417Arg Uncertain significance Single submitter
- CYP7A1 p.Gly43Val Uncertain significance Single submitter
- CYP7A1 p.Gly440Glu Uncertain significance Single submitter
- CYP7A1 p.Gly485Asp Uncertain significance Single submitter
- CYP7A1 p.Gly49Asp Uncertain significance Single submitter
- CYP7A1 p.Gly49Ser Uncertain significance Single submitter
- CYP7A1 p.Gly64Asp Uncertain significance Single submitter
- CYP7A1 p.His244Gln Uncertain significance Single submitter
- CYP7A1 p.Ile12Thr Uncertain significance Single submitter
- CYP7A1 p.Ile130Phe Uncertain significance Single submitter
- CYP7A1 p.Leu18Val Uncertain significance Single submitter
- CYP7A1 p.Leu192Ile Uncertain significance Single submitter
- CYP7A1 p.Leu267Ser Uncertain significance Single submitter
- CYP7A1 p.Leu319Ser Uncertain significance Single submitter
- CYP7A1 p.Lys210Arg Uncertain significance Single submitter
-
CYP7A1 p.Lys214Asn
Uncertain significance
Single submitter
CYP7A1-related disorder
- CYP7A1 p.Lys367Met Uncertain significance Single submitter
- CYP7A1 p.Lys429Gln Uncertain significance Single submitter
- CYP7A1 p.Lys475Arg Uncertain significance Single submitter
- CYP7A1 p.Lys99Ile Uncertain significance Single submitter
- CYP7A1 p.Met145Arg Uncertain significance Single submitter
- CYP7A1 p.Met145Val Uncertain significance Single submitter
- CYP7A1 p.Met394Ile Uncertain significance Single submitter
- CYP7A1 p.Met461Thr Uncertain significance Single submitter
- CYP7A1 p.Phe95Leu Uncertain significance Single submitter
- CYP7A1 p.Pro116Leu Uncertain significance Single submitter
- CYP7A1 p.Pro116Ser Uncertain significance Single submitter
- CYP7A1 p.Pro224Leu Uncertain significance Single submitter
- CYP7A1 p.Pro32Thr Uncertain significance Single submitter
- CYP7A1 p.Pro332Leu Uncertain significance Single submitter
- CYP7A1 p.Pro490Leu Uncertain significance Single submitter
- CYP7A1 p.Ser140Phe Uncertain significance Single submitter
- CYP7A1 p.Ser353Leu Uncertain significance Single submitter
- CYP7A1 p.Ser358Gly Uncertain significance Single submitter
- CYP7A1 p.Ser439Leu Uncertain significance Single submitter
- CYP7A1 p.Thr104Ala Uncertain significance Single submitter
- CYP7A1 p.Thr294Ala Uncertain significance Single submitter
- CYP7A1 p.Thr3Asn Uncertain significance Single submitter
- CYP7A1 p.Thr406Ala Uncertain significance Single submitter
- CYP7A1 p.Thr422Ala Uncertain significance Single submitter
- CYP7A1 p.Thr4Ala Uncertain significance Single submitter
- CYP7A1 p.Thr80Lys Uncertain significance Single submitter
- CYP7A1 p.Trp284Arg Uncertain significance Single submitter
- CYP7A1 p.Trp296Cys Uncertain significance Single submitter
- CYP7A1 p.Trp8Arg Uncertain significance Single submitter
- CYP7A1 p.Tyr433Asn Uncertain significance Single submitter
- CYP7A1 p.Tyr434Ser Uncertain significance Single submitter
- CYP7A1 p.Val157Ala Uncertain significance Single submitter
- CYP7A1 p.Val178Met Uncertain significance Single submitter
- CYP7A1 p.Val66Gly Uncertain significance Single submitter
- CYP7A1 p.Val76Ile Uncertain significance Single submitter
-
CYP7A1 p.Asp127Asn
Uncertain significance
No assertion criteria
CYP7A1-related disorder
-
CYP7A1 p.Gly135Asp
Uncertain significance
No assertion criteria
CYP7A1-related disorder
-
CYP7A1 p.Pro445Leu
Uncertain significance
No assertion criteria
CYP7A1-related disorder
-
CYP7A1 p.Ser113Thr
Uncertain significance
No assertion criteria
CYP7A1-related disorder
-
CYP7A1 p.Ser173Ala
Uncertain significance
No assertion criteria
CYP7A1-related disorder
-
CYP7A1 p.Trp8Cys
Uncertain significance
No assertion criteria
CYP7A1-related disorder
Predictors split 23
The independent predictors disagree with each other — read with care.
-
CYP7A1 p.Arg250Met
Uncertain significance
Multiple submitters
CYP7A1-related disorder
- CYP7A1 p.Asp191Gly Uncertain significance Multiple submitters
- CYP7A1 p.Gly377Ser Uncertain significance Multiple submitters
- CYP7A1 p.Met435Thr Uncertain significance Multiple submitters
- CYP7A1 p.Ala474Pro Uncertain significance Single submitter
- CYP7A1 p.Asp191Glu Uncertain significance Single submitter
- CYP7A1 p.Cys69Phe Uncertain significance Single submitter
- CYP7A1 p.Gly440Ala Uncertain significance Single submitter
- CYP7A1 p.Gly9Arg Uncertain significance Single submitter
- CYP7A1 p.His279Gln Uncertain significance Single submitter
- CYP7A1 p.Leu273Pro Uncertain significance Single submitter
- CYP7A1 p.Leu356Phe Uncertain significance Single submitter
- CYP7A1 p.Leu46Arg Uncertain significance Single submitter
- CYP7A1 p.Lys107Thr Uncertain significance Single submitter
- CYP7A1 p.Lys498Asn Uncertain significance Single submitter
- CYP7A1 p.Pro391Leu Uncertain significance Single submitter
- CYP7A1 p.Pro402Thr Uncertain significance Single submitter
- CYP7A1 p.Pro445Ser Uncertain significance Single submitter
- CYP7A1 p.Ser286Leu Uncertain significance Single submitter
- CYP7A1 p.Tyr412His Uncertain significance Single submitter
- CYP7A1 p.Val178Ala Uncertain significance Single submitter
- CYP7A1 p.Val282Ala Uncertain significance Single submitter
- CYP7A1 p.Arg303Trp Uncertain significance No assertion criteria
All CYP7A1 variants
Pathogenic 1
- p.Glu320fs Single submitter
Conflicting classifications of pathogenicity 10
- c.1215+8C>T Single submitter
- p.Ala106= Single submitter
- p.Ala13Val Single submitter ⚠
- p.Ile470Thr Single submitter ⚠
- p.Leu53Phe Single submitter ⚠
- p.Lys431Arg Single submitter ⚠
- p.Pro398Ala Single submitter ⚠
- p.Pro491= Single submitter
- p.Thr4Ile Single submitter ⚠
- p.Tyr41= Single submitter
Benign 9
- c.1216-13A>G Multiple submitters
- c.321+33T>C Multiple submitters
- c.322-11T>C Multiple submitters
- c.81-14C>T Multiple submitters
- p.Asp347Asn Multiple submitters
- c.1216-108T>C Single submitter
- c.321+156G>A Single submitter
- c.322-180T>G Single submitter
- c.322-269A>G Single submitter
Benign/Likely benign 9
- c.1039+11T>C Multiple submitters
- c.1040-17del Multiple submitters
- c.81-6T>C Multiple submitters
- p.Asn233Ser Multiple submitters
- p.Asn416= Multiple submitters
- p.His86Asn Multiple submitters
- p.Lys99= Multiple submitters
- p.Ser353= Multiple submitters
- p.Tyr75= Multiple submitters
Likely benign 52
- p.Arg151= Multiple submitters
- c.1039+181A>G Single submitter
- c.1039+19T>C Single submitter
- c.1039+7A>G Single submitter
- c.1215+13C>T Single submitter
- c.1216-163G>A Single submitter
- c.321+13A>G Single submitter
- c.321+7A>T Single submitter
- c.322-198G>A Single submitter
- c.322-20C>T Single submitter
- c.322-276T>C Single submitter
- c.81-13_81-10dup Single submitter
- c.81-18T>C Single submitter
- c.908+12C>T Single submitter
- c.908+31dup Single submitter
- c.908+9C>T Single submitter
- p.Ala338= Single submitter
- p.Ala338Thr Single submitter
- p.Arg411= Single submitter
- p.Asn205= Single submitter
- p.Asp376= Single submitter
- p.Cys425= Single submitter
- p.Gly487= Single submitter
- p.His201Leu Single submitter
- p.His226= Single submitter
- p.His63= Single submitter
- p.Ile470= Single submitter
- p.Leu18= Single submitter
- p.Leu192= Single submitter
- p.Leu273= Single submitter
- p.Leu280= Single submitter
- p.Leu34= Single submitter
- p.Leu38= Single submitter
- p.Leu405= Single submitter
- p.Lys408= Single submitter
- p.Phe102= Single submitter
- p.Phe212= Single submitter
- p.Pro305= Single submitter
- p.Pro490= Single submitter
- p.Thr142= Single submitter
- p.Thr29= Single submitter
- p.Thr4= Single submitter
- p.Thr80= Single submitter
- c.*9C>G No assertion criteria CYP7A1-related disorder
- p.Ala388= No assertion criteria CYP7A1-related disorder
- p.Gln134= No assertion criteria CYP7A1-related disorder
- p.Gln392= No assertion criteria CYP7A1-related disorder
- p.Glu274= No assertion criteria CYP7A1-related disorder
- p.Leu283= No assertion criteria CYP7A1-related disorder
- p.Phe209= No assertion criteria CYP7A1-related disorder
- p.Ser158= No assertion criteria CYP7A1-related disorder
- p.Thr163= No assertion criteria CYP7A1-related disorder
Uncertain significance 166
- p.Ala108Thr Multiple submitters ⚠
- p.Arg190Gly Multiple submitters ⚠
- p.Arg195Trp Multiple submitters ⚠
- p.Arg235Gln Multiple submitters
- p.Arg250Met Multiple submitters CYP7A1-related disorder ⚠
- p.Arg260Leu Multiple submitters ⚠
- p.Arg364Gln Multiple submitters ⚠
- p.Arg364Trp Multiple submitters CYP7A1-related disorder ⚠
- p.Arg483Trp Multiple submitters ⚠
- p.Asn264Ser Multiple submitters ⚠
- p.Asn36Lys Multiple submitters ⚠
- p.Asp191Gly Multiple submitters ⚠
- p.Glu313Lys Multiple submitters ⚠
- p.Glu453Lys Multiple submitters ⚠
- p.Gly377Ser Multiple submitters ⚠
- p.His373Gln Multiple submitters ⚠
- p.Ile187Val Multiple submitters ⚠
- p.Leu138Ser Multiple submitters ⚠
- p.Leu361Val Multiple submitters ⚠
- p.Leu405Trp Multiple submitters ⚠
- p.Leu413fs Multiple submitters
- p.Leu462Val Multiple submitters ⚠
- p.Lys431Asn Multiple submitters ⚠
- p.Met435Thr Multiple submitters ⚠
- p.Pro490Arg Multiple submitters
- p.Ser161Ala Multiple submitters ⚠
- p.Ser241Asn Multiple submitters ⚠
- p.Thr193Ile Multiple submitters ⚠
- p.Trp284Leu Multiple submitters ⚠
- p.Tyr75Cys Multiple submitters
- p.Val315Met Multiple submitters ⚠
- c.1039+2T>A Single submitter
- c.1040-5T>G Single submitter
- c.1215+3A>G Single submitter
- c.321+2T>C Single submitter
- c.81-10T>C Single submitter
- c.908+5C>T Single submitter
- c.908+6T>G Single submitter
- c.909-2A>G Single submitter
- c.909-4A>C Single submitter
- c.*5A>G Single submitter
- c.*6_*7delinsAAT Single submitter
- p.Ala106Glu Single submitter ⚠
- p.Ala106Val Single submitter ⚠
- p.Ala164Thr Single submitter ⚠
- p.Ala218Asp Single submitter
- p.Ala221Val Single submitter ⚠
- p.Ala231Val Single submitter
- p.Ala359= Single submitter
- p.Ala441Gly Single submitter ⚠
- p.Ala450Thr Single submitter ⚠
- p.Ala45Ser Single submitter ⚠
- p.Ala474Pro Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg194Lys Single submitter ⚠
- p.Arg235Gly Single submitter ⚠
- p.Arg235Trp Single submitter ⚠
- p.Arg260Ser Single submitter ⚠
- p.Arg317Ser Single submitter ⚠
- p.Arg317Thr Single submitter ⚠
- p.Arg483Gln Single submitter ⚠
- p.Asn160Lys Single submitter ⚠
- p.Asp191Glu Single submitter ⚠
- p.Asp272Ala Single submitter ⚠
- p.Asp376Asn Single submitter ⚠
- p.Asp410Gly Single submitter
- p.Cys69Phe Single submitter ⚠
- p.Gln300= Single submitter
- p.Gln481Glu Single submitter ⚠
- p.Gln60Lys Single submitter ⚠
- p.Glu123Val Single submitter ⚠
- p.Glu143Lys Single submitter ⚠
- p.Glu245Lys Single submitter ⚠
- p.Glu255Lys Single submitter ⚠
- p.Glu306_Ala307delinsAspSer Single submitter
- p.Glu306Asp Single submitter ⚠
- p.Glu314fs Single submitter
- p.Glu54Gln Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Gly330Ser Single submitter ⚠
- p.Gly417Arg Single submitter ⚠
- p.Gly43Val Single submitter ⚠
- p.Gly440Ala Single submitter ⚠
- p.Gly440Glu Single submitter ⚠
- p.Gly485Asp Single submitter ⚠
- p.Gly49Asp Single submitter ⚠
- p.Gly49Ser Single submitter ⚠
- p.Gly64Asp Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His244Gln Single submitter ⚠
- p.His279Gln Single submitter ⚠
- p.His86del Single submitter
- p.Ile12Thr Single submitter ⚠
- p.Ile130Phe Single submitter ⚠
- p.Leu141= Single submitter
- p.Leu18Val Single submitter ⚠
- p.Leu192Ile Single submitter ⚠
- p.Leu267Ser Single submitter ⚠
- p.Leu273Pro Single submitter ⚠
- p.Leu319Ser Single submitter ⚠
- p.Leu335= Single submitter
- p.Leu356Phe Single submitter ⚠
- p.Leu42= Single submitter
- p.Leu458Phe Single submitter
- p.Leu46Arg Single submitter ⚠
- p.Lys107Thr Single submitter ⚠
- p.Lys210Arg Single submitter ⚠
- p.Lys214Asn Single submitter CYP7A1-related disorder ⚠
- p.Lys367Met Single submitter ⚠
- p.Lys429Gln Single submitter ⚠
- p.Lys475Arg Single submitter ⚠
- p.Lys498Asn Single submitter ⚠
- p.Lys62Asn Single submitter
- p.Lys99Ile Single submitter ⚠
- p.Met145Arg Single submitter ⚠
- p.Met145Val Single submitter ⚠
- p.Met394Ile Single submitter ⚠
- p.Met461Thr Single submitter ⚠
- p.Phe228Val Single submitter
- p.Phe55= Single submitter
- p.Phe95Leu Single submitter ⚠
- p.Pro116fs Single submitter
- p.Pro116Leu Single submitter ⚠
- p.Pro116Ser Single submitter ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro32Thr Single submitter ⚠
- p.Pro332Leu Single submitter ⚠
- p.Pro391Leu Single submitter ⚠
- p.Pro402Thr Single submitter ⚠
- p.Pro445Ser Single submitter ⚠
- p.Pro490Leu Single submitter ⚠
- p.Ser140Phe Single submitter ⚠
- p.Ser286Leu Single submitter ⚠
- p.Ser353Leu Single submitter ⚠
- p.Ser358Gly Single submitter ⚠
- p.Ser439Leu Single submitter ⚠
- p.Thr104Ala Single submitter ⚠
- p.Thr128fs Single submitter
- p.Thr294Ala Single submitter ⚠
- p.Thr3Asn Single submitter ⚠
- p.Thr406Ala Single submitter ⚠
- p.Thr422Ala Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Thr80Lys Single submitter ⚠
- p.Trp166Ter Single submitter
- p.Trp284Arg Single submitter ⚠
- p.Trp296Cys Single submitter ⚠
- p.Trp8Arg Single submitter ⚠
- p.Tyr412His Single submitter ⚠
- p.Tyr433Asn Single submitter ⚠
- p.Tyr434Ser Single submitter ⚠
- p.Val157Ala Single submitter ⚠
- p.Val178Ala Single submitter ⚠
- p.Val178Met Single submitter ⚠
- p.Val281= Single submitter
- p.Val282Ala Single submitter ⚠
- p.Val66Gly Single submitter ⚠
- p.Val76Ile Single submitter ⚠
- p.Arg303Trp No assertion criteria ⚠
- p.Asp127Asn No assertion criteria CYP7A1-related disorder ⚠
- p.Glu274Lys No assertion criteria CYP7A1-related disorder
- p.Gly135Asp No assertion criteria CYP7A1-related disorder ⚠
- p.Pro445Leu No assertion criteria CYP7A1-related disorder ⚠
- p.Ser113Thr No assertion criteria CYP7A1-related disorder ⚠
- p.Ser173Ala No assertion criteria CYP7A1-related disorder ⚠
- p.Trp8Cys No assertion criteria CYP7A1-related disorder ⚠